OBO ID: DOID:0081155
Term Name: common variable immunodeficiency 13 Search Ontology:
Synonyms:
Definition: A common variable immunodeficiency that is characterized by recurrent bacterial infections, mainly affecting the respiratory tract, and associated with hypogammaglobulinemia and decreased numbers of B cells and that has_material_basis_in heterozygous mutation in the IKZF1 gene on chromosome 7p12. https://pubmed.ncbi.nlm.nih.gov/26981933/
References:
Ontology: Human Disease   ( DOID:0081155 )
Relationships
is a type of:
OTHER common variable immunodeficiency 13 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
IKZF1 Immunodeficiency, common variable, 13 616873
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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